GTR Home > Conditions/Phenotypes > Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3

Disease characteristics

Excerpted from the GeneReview: Common Variable Immune Deficiency Overview
Common variable immune deficiency (CVID) is characterized by humoral immune deficiency with onset after age 24 months and usually in young adulthood, resulting in increased susceptibility to infections and diminished responses to protein and polysaccharide vaccines. The most common infections are sinopulmonary and include Streptococcus pneumonia, Hemophilis influenza, Klebsiella pneumonia, and sometimes mycoplasma infections. Individuals may experience meningitis or other systemic bacterial infections, recurrent eye or skin infections, or gastrointestinal symptoms related to compromised immune/gut homeostasis, including chronic diarrhea, malabsorption, or bloating. They may also have abnormal T-cell function and immune dysregulation, including lymphoid hyperplasia, gastrointestinal inflammation, autoimmune phenomena, and susceptibility to malignancy, especially lymphomas.

Available tests

1 test is in the database for this condition. See lab offering the test.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

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  • Diarrhea
  • Recurrent aphthous stomatitis
  • Recurrent sinusitis
  • Perioral eczema

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